Research: Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

Int J Mol Sci

. 2021 Jun 14;22(12):6353. doi: 10.3390/ijms22126353.

Management of Congenital Diaphragmatic Hernia (CDH): Role of Molecular Genetics

Giulia Cannata 1Chiara Caporilli 1Federica Grassi 1Serafina Perrone 2Susanna Esposito 1Affiliations expand

Free PMC article


Congenital diaphragmatic hernia (CDH) is a relatively common major life-threatening birth defect that results in significant mortality and morbidity depending primarily on lung hypoplasia, persistent pulmonary hypertension, and cardiac dysfunction. Despite its clinical relevance, CDH multifactorial etiology is still not completely understood. We reviewed current knowledge on normal diaphragm development and summarized genetic mutations and related pathways as well as cellular mechanisms involved in CDH. Our literature analysis showed that the discovery of harmful de novo variants in the fetus could constitute an important tool for the medical team during pregnancy, counselling, and childbirth. A better insight into the mechanisms regulating diaphragm development and genetic causes leading to CDH appeared essential to the development of new therapeutic strategies and evidence-based genetic counselling to parents. Integrated sequencing, development, and bioinformatics strategies could direct future functional studies on CDH; could be applied to cohorts and consortia for CDH and other birth defects; and could pave the way for potential therapies by providing molecular targets for drug discovery.

Keywords: birth defects; congenital diaphragmatic hernia; diaphragm embryology; genetics; whole exome sequencing.

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